ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-136C>G (rs33994806)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505925 SCV000601243 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing
OMIM RCV000016723 SCV000036993 pathogenic Beta-plus-thalassemia 1992-06-01 no assertion criteria provided literature only
GeneReviews RCV000029948 SCV000040699 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029948 SCV000052603 pathogenic beta Thalassemia 2015-04-03 no assertion criteria provided clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000029948 SCV001244597 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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